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Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria

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Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria. / Stéphenne, X; Debray, F G; Smets, F; Jazouli, N; Sana, G; Tondreau, T; Menten, R; Goffette, P; Boemer, F; Schoos, R; Gersting, S W; Najimi, M; Muntau, A C; Goyens, P; Sokal, E M.

In: CELL TRANSPLANT, Vol. 21, No. 12, 2012, p. 2765-70.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Stéphenne, X, Debray, FG, Smets, F, Jazouli, N, Sana, G, Tondreau, T, Menten, R, Goffette, P, Boemer, F, Schoos, R, Gersting, SW, Najimi, M, Muntau, AC, Goyens, P & Sokal, EM 2012, 'Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria', CELL TRANSPLANT, vol. 21, no. 12, pp. 2765-70. https://doi.org/10.3727/096368912X653255

APA

Stéphenne, X., Debray, F. G., Smets, F., Jazouli, N., Sana, G., Tondreau, T., Menten, R., Goffette, P., Boemer, F., Schoos, R., Gersting, S. W., Najimi, M., Muntau, A. C., Goyens, P., & Sokal, E. M. (2012). Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria. CELL TRANSPLANT, 21(12), 2765-70. https://doi.org/10.3727/096368912X653255

Vancouver

Stéphenne X, Debray FG, Smets F, Jazouli N, Sana G, Tondreau T et al. Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria. CELL TRANSPLANT. 2012;21(12):2765-70. https://doi.org/10.3727/096368912X653255

Bibtex

@article{0b11e1c92c5347a891914a063185c2d8,
title = "Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria",
abstract = "Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.",
keywords = "Cell- and Tissue-Based Therapy, Child, Female, Glycogen Storage Disease Type I/therapy, Half-Life, Hepatocytes/cytology, Humans, Infant, Liver Function Tests, Male, Phenylalanine/blood, Phenylalanine Hydroxylase/genetics, Phenylketonurias/diagnosis",
author = "X St{\'e}phenne and Debray, {F G} and F Smets and N Jazouli and G Sana and T Tondreau and R Menten and P Goffette and F Boemer and R Schoos and Gersting, {S W} and M Najimi and Muntau, {A C} and P Goyens and Sokal, {E M}",
year = "2012",
doi = "10.3727/096368912X653255",
language = "English",
volume = "21",
pages = "2765--70",
journal = "CELL TRANSPLANT",
issn = "0963-6897",
publisher = "Cognizant Communication Corporation",
number = "12",

}

RIS

TY - JOUR

T1 - Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria

AU - Stéphenne, X

AU - Debray, F G

AU - Smets, F

AU - Jazouli, N

AU - Sana, G

AU - Tondreau, T

AU - Menten, R

AU - Goffette, P

AU - Boemer, F

AU - Schoos, R

AU - Gersting, S W

AU - Najimi, M

AU - Muntau, A C

AU - Goyens, P

AU - Sokal, E M

PY - 2012

Y1 - 2012

N2 - Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.

AB - Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden. Oral administration of tetrahydrobiopterin can increase residual enzyme activity, but most patients with severe clinical phenotypes are nonresponders. We performed liver cell transplantation in a 6-year-old boy with severe tetrahydrobiopterin nonresponsive phenylketonuria who failed to comply with diet prescriptions. The transplanted hepatocytes were obtained in part from an explanted glycogen storage type 1b liver. Following two infusions, blood phenylalanine levels returned within the therapeutic target while the phenylalanine half-life assessed by loading tests decreased from 43 to 19 h. However, 3 months later, blood phenylalanine concentrations increased and the phenylalanine intake had to be reduced. Cell-based therapy is a promising therapeutic option in phenylketonuria, and the domino concept may solve the issue of cell sources for hepatocyte transplantation.

KW - Cell- and Tissue-Based Therapy

KW - Child

KW - Female

KW - Glycogen Storage Disease Type I/therapy

KW - Half-Life

KW - Hepatocytes/cytology

KW - Humans

KW - Infant

KW - Liver Function Tests

KW - Male

KW - Phenylalanine/blood

KW - Phenylalanine Hydroxylase/genetics

KW - Phenylketonurias/diagnosis

U2 - 10.3727/096368912X653255

DO - 10.3727/096368912X653255

M3 - SCORING: Journal article

C2 - 22889463

VL - 21

SP - 2765

EP - 2770

JO - CELL TRANSPLANT

JF - CELL TRANSPLANT

SN - 0963-6897

IS - 12

ER -